Quick question

[kaylinsmom]

I was just wondering how many sweat tests did you or your child have done? Especially if the results were "borderline"? And, I was also wondering if there is any difference in the results the older you get? My daughter had 2 done over a year ago, 30 and 44. We have been from one test to another trying to find out what is going on. Just curious to see if maybe we should dheck the sweat test again? We have already done the full panel with one mutation found. She is 8 and I am at wits end! Thank you for any advice! Erin

 

[kaylinsmom]

I was just wondering how many sweat tests did you or your child have done? Especially if the results were "borderline"? And, I was also wondering if there is any difference in the results the older you get? My daughter had 2 done over a year ago, 30 and 44. We have been from one test to another trying to find out what is going on. Just curious to see if maybe we should dheck the sweat test again? We have already done the full panel with one mutation found. She is 8 and I am at wits end! Thank you for any advice! Erin

 

[kaylinsmom]

I was just wondering how many sweat tests did you or your child have done? Especially if the results were "borderline"? And, I was also wondering if there is any difference in the results the older you get? My daughter had 2 done over a year ago, 30 and 44. We have been from one test to another trying to find out what is going on. Just curious to see if maybe we should dheck the sweat test again? We have already done the full panel with one mutation found. She is 8 and I am at wits end! Thank you for any advice! Erin

 

[hmw]

Emily had two, both extremely high, and one mutation on the Ambry test.

Shawn is more like your daughter. He had one mutation on the Ambry test. He had 'borderline' symptoms to match his borderline sweat test results- asthma, sinusitis, but a normal CF sputum culture and a normal chest xray despite bad pft's. (in other words, more consistent with asthma rather than cf.) We had to go on to other testing to figure things out. Eventually NPD testing came back normal. He's now considered a symptomatic carrier. After all of what we ended up having to do to rule him a carrier, I wish the 30 came first which maybe would have saved me a whole lot of worry, but that wasn't the case- we were presented with the 48 & 54 first and had to follow through. But in our case we could see just how changeable sweat tests were. They were NOT a good indicator of whether or not he had CF, and yet was very definitive for his sister, who tested at over 100.

No ONE test for this disease, taken in isolation, can completely rule out CF. Some can rule it in with 100% certainty (i.e. genetic test finding 2 known disease-causing mutations), but nothing can rule it out with 100% certainty. Everything needs to be looked at together: sweat test results, newborn screen, genetic test results, family hx, symptoms, response to cf-specific treatment, test results like sputum culture, xrays/ct scan, etc. Only then can an accurate dx be made.

What symptoms does she have? That, really, is just as important in determining dx as what the results of another sweat test would be.

I'd also strongly recommend finding a center where you could get NPD testing for her. It won't be illuminating for everyone, but can be very helpful. <img src="i/expressions/face-icon-small-smile.gif" border="0"> They do it at Hopkins, CHOP(where they are doing a research study- that is where I took Shawn and it was worth the travel to get there), I believe in Birmingham for a study, as well as in several other centers.

I wish the best in getting things figured out!

 

[hmw]

Emily had two, both extremely high, and one mutation on the Ambry test.

Shawn is more like your daughter. He had one mutation on the Ambry test. He had 'borderline' symptoms to match his borderline sweat test results- asthma, sinusitis, but a normal CF sputum culture and a normal chest xray despite bad pft's. (in other words, more consistent with asthma rather than cf.) We had to go on to other testing to figure things out. Eventually NPD testing came back normal. He's now considered a symptomatic carrier. After all of what we ended up having to do to rule him a carrier, I wish the 30 came first which maybe would have saved me a whole lot of worry, but that wasn't the case- we were presented with the 48 & 54 first and had to follow through. But in our case we could see just how changeable sweat tests were. They were NOT a good indicator of whether or not he had CF, and yet was very definitive for his sister, who tested at over 100.

No ONE test for this disease, taken in isolation, can completely rule out CF. Some can rule it in with 100% certainty (i.e. genetic test finding 2 known disease-causing mutations), but nothing can rule it out with 100% certainty. Everything needs to be looked at together: sweat test results, newborn screen, genetic test results, family hx, symptoms, response to cf-specific treatment, test results like sputum culture, xrays/ct scan, etc. Only then can an accurate dx be made.

What symptoms does she have? That, really, is just as important in determining dx as what the results of another sweat test would be.

I'd also strongly recommend finding a center where you could get NPD testing for her. It won't be illuminating for everyone, but can be very helpful. <img src="i/expressions/face-icon-small-smile.gif" border="0"> They do it at Hopkins, CHOP(where they are doing a research study- that is where I took Shawn and it was worth the travel to get there), I believe in Birmingham for a study, as well as in several other centers.

I wish the best in getting things figured out!

 

[hmw]

Emily had two, both extremely high, and one mutation on the Ambry test.
<br />
<br />Shawn is more like your daughter. He had one mutation on the Ambry test. He had 'borderline' symptoms to match his borderline sweat test results- asthma, sinusitis, but a normal CF sputum culture and a normal chest xray despite bad pft's. (in other words, more consistent with asthma rather than cf.) We had to go on to other testing to figure things out. Eventually NPD testing came back normal. He's now considered a symptomatic carrier. After all of what we ended up having to do to rule him a carrier, I wish the 30 came first which maybe would have saved me a whole lot of worry, but that wasn't the case- we were presented with the 48 & 54 first and had to follow through. But in our case we could see just how changeable sweat tests were. They were NOT a good indicator of whether or not he had CF, and yet was very definitive for his sister, who tested at over 100.
<br />
<br />No ONE test for this disease, taken in isolation, can completely rule out CF. Some can rule it in with 100% certainty (i.e. genetic test finding 2 known disease-causing mutations), but nothing can rule it out with 100% certainty. Everything needs to be looked at together: sweat test results, newborn screen, genetic test results, family hx, symptoms, response to cf-specific treatment, test results like sputum culture, xrays/ct scan, etc. Only then can an accurate dx be made.
<br />
<br />What symptoms does she have? That, really, is just as important in determining dx as what the results of another sweat test would be.
<br />
<br />I'd also strongly recommend finding a center where you could get NPD testing for her. It won't be illuminating for everyone, but can be very helpful. <img src="i/expressions/face-icon-small-smile.gif" border="0"> They do it at Hopkins, CHOP(where they are doing a research study- that is where I took Shawn and it was worth the travel to get there), I believe in Birmingham for a study, as well as in several other centers.
<br />
<br />I wish the best in getting things figured out!

 

[mom2owen]

We have three done (six total with two on each arm each test) and two different tests gave us EXACTLY the same results. I actually thought the doctor was reporting it wrong and reading from the records from two years ago instead of this last one in February. My thought is that when it is really high, it is more definitive but I have given up on using it to diagnose, especially given that there are lots of people with borderline sweats with two known mutations. I second Harriett's call on the use of multiple tests and factors in the less clear cut cases.
Good luck, I know just how hard it is. I would also be interested in symptoms your daughter is having. It is just not an easy situation to deal with but you are in the right place here to get some help and some peace of mind or direction. Good luck.

 

[mom2owen]

We have three done (six total with two on each arm each test) and two different tests gave us EXACTLY the same results. I actually thought the doctor was reporting it wrong and reading from the records from two years ago instead of this last one in February. My thought is that when it is really high, it is more definitive but I have given up on using it to diagnose, especially given that there are lots of people with borderline sweats with two known mutations. I second Harriett's call on the use of multiple tests and factors in the less clear cut cases.
Good luck, I know just how hard it is. I would also be interested in symptoms your daughter is having. It is just not an easy situation to deal with but you are in the right place here to get some help and some peace of mind or direction. Good luck.

 

[mom2owen]

We have three done (six total with two on each arm each test) and two different tests gave us EXACTLY the same results. I actually thought the doctor was reporting it wrong and reading from the records from two years ago instead of this last one in February. My thought is that when it is really high, it is more definitive but I have given up on using it to diagnose, especially given that there are lots of people with borderline sweats with two known mutations. I second Harriett's call on the use of multiple tests and factors in the less clear cut cases.
<br />Good luck, I know just how hard it is. I would also be interested in symptoms your daughter is having. It is just not an easy situation to deal with but you are in the right place here to get some help and some peace of mind or direction. Good luck.

 

[kaylinsmom]

Thank you both so much!! Her symptoms over the course of 2 years which started with constant runny nose and cough. Then, ear infections, sinus infections, which resulted in ear tubes and adenoids removed. Alot of fevers, gi problems, pale and dark circles under eyes. But mainly now that she is being treated for asthma and watched very closely, her symptoms are stuffy nose and cough. She gets pneumonia very easily and has been hospitalized with that. We see a gi and so far, have just had to clean her out twice. She cant play sports because it is too hard for her. She takes advair twice a day, miralax, nexium, albuterol, and singulair. But she has so much congestion in her nose. Her ct scan of her sinuses weren't bad. I wonder now about traveling to get the npd test? I will mention that to her pulmo. Thanks so much!

 

[kaylinsmom]

Thank you both so much!! Her symptoms over the course of 2 years which started with constant runny nose and cough. Then, ear infections, sinus infections, which resulted in ear tubes and adenoids removed. Alot of fevers, gi problems, pale and dark circles under eyes. But mainly now that she is being treated for asthma and watched very closely, her symptoms are stuffy nose and cough. She gets pneumonia very easily and has been hospitalized with that. We see a gi and so far, have just had to clean her out twice. She cant play sports because it is too hard for her. She takes advair twice a day, miralax, nexium, albuterol, and singulair. But she has so much congestion in her nose. Her ct scan of her sinuses weren't bad. I wonder now about traveling to get the npd test? I will mention that to her pulmo. Thanks so much!

 

[kaylinsmom]

Thank you both so much!! Her symptoms over the course of 2 years which started with constant runny nose and cough. Then, ear infections, sinus infections, which resulted in ear tubes and adenoids removed. Alot of fevers, gi problems, pale and dark circles under eyes. But mainly now that she is being treated for asthma and watched very closely, her symptoms are stuffy nose and cough. She gets pneumonia very easily and has been hospitalized with that. We see a gi and so far, have just had to clean her out twice. She cant play sports because it is too hard for her. She takes advair twice a day, miralax, nexium, albuterol, and singulair. But she has so much congestion in her nose. Her ct scan of her sinuses weren't bad. I wonder now about traveling to get the npd test? I will mention that to her pulmo. Thanks so much!

 

[kaylinsmom]

She also has the less common symptoms that I have read on this site, like pruning, and skin peeling on feet, clubbing, being really smart<img src="i/expressions/face-icon-small-wink.gif" border="0"> jk. But she is very smart! And when she cries her tears leave a white streak on her face. She is under weight but hopefully we are on top of that.

 

[kaylinsmom]

She also has the less common symptoms that I have read on this site, like pruning, and skin peeling on feet, clubbing, being really smart<img src="i/expressions/face-icon-small-wink.gif" border="0"> jk. But she is very smart! And when she cries her tears leave a white streak on her face. She is under weight but hopefully we are on top of that.

 

[kaylinsmom]

She also has the less common symptoms that I have read on this site, like pruning, and skin peeling on feet, clubbing, being really smart<img src="i/expressions/face-icon-small-wink.gif" border="0"> jk. But she is very smart! And when she cries her tears leave a white streak on her face. She is under weight but hopefully we are on top of that.

 

[hmw]

Has she had a 72hr fecal test for fecal fat & elastase to test for malabsorption and pancreatic insufficiency? Considering she's both small and has had GI issues (and is seen by a GI who can very easily order this test) I would ask for this. Quest, for example, has a CF-specific stool test looking for the above, and the 72 hour collection, while being gross, is much more accurate than a one-time sample.

Has she ever had a sputum culture? That's another easy test to obtain. Just make sure they order it as a CF culture with gram stain.

Pruning and skin peeling and fatigue profound enough to keep her from participating in activities typical kids her age can do is pretty interesting added to the other symptoms and something that does give me pause.

 

[hmw]

Has she had a 72hr fecal test for fecal fat & elastase to test for malabsorption and pancreatic insufficiency? Considering she's both small and has had GI issues (and is seen by a GI who can very easily order this test) I would ask for this. Quest, for example, has a CF-specific stool test looking for the above, and the 72 hour collection, while being gross, is much more accurate than a one-time sample.

Has she ever had a sputum culture? That's another easy test to obtain. Just make sure they order it as a CF culture with gram stain.

Pruning and skin peeling and fatigue profound enough to keep her from participating in activities typical kids her age can do is pretty interesting added to the other symptoms and something that does give me pause.

 

[hmw]

Has she had a 72hr fecal test for fecal fat & elastase to test for malabsorption and pancreatic insufficiency? Considering she's both small and has had GI issues (and is seen by a GI who can very easily order this test) I would ask for this. Quest, for example, has a CF-specific stool test looking for the above, and the 72 hour collection, while being gross, is much more accurate than a one-time sample.
<br />
<br />Has she ever had a sputum culture? That's another easy test to obtain. Just make sure they order it as a CF culture with gram stain.
<br />
<br />Pruning and skin peeling and fatigue profound enough to keep her from participating in activities typical kids her age can do is pretty interesting added to the other symptoms and something that does give me pause.

 

[kaylinsmom]

She has not had the 72 hr test but she has had the other one. I took in samples of her stool and they checked for about 4 different things. It came back normal. She has not had a sputum culture. Maybe we should get that done also! Thanks so much!

 

[kaylinsmom]

She has not had the 72 hr test but she has had the other one. I took in samples of her stool and they checked for about 4 different things. It came back normal. She has not had a sputum culture. Maybe we should get that done also! Thanks so much!